Kallmann综合征一例报道
被引量:1
Kallmann syndrome: a report of one ease
摘要
Kallmann综合征(Kalhnann syndrome,KS)是一种少见的先天性疾病,以低促性腺激素水平,性腺发育不良伴嗅觉丧失或减退为特征。该综合征可呈散发型或遗传型,早期发现并给予激素治疗可改善患者预后。本文报道KS1例。
出处
《中华神经医学杂志》
CAS
CSCD
北大核心
2012年第4期426-427,共2页
Chinese Journal of Neuromedicine
参考文献6
-
1沙艳伟,李朋,李铮.Kallmann综合征致病基因与诊疗研究进展[J].上海交通大学学报(医学版),2010,30(7):856-860. 被引量:4
-
2Zhang S,Wang T,Yang J. A fertile male patient with Kallmann syndrome and two missense mutations in the KAL1 gene[J].Fertility and Sterility,2011,(05):1789.
-
3Hu Y,Yu H,Shaw G. Kallmann Syndrome 1 Gene is expressed in the marsupial gonad[J].Biology of Reproduction,2011,(03):595-603.
-
4Sarfati J,Dodé C,Young J. Kallmann syndrome caused by mutations in the PROK2 and PROKR2 genes:pathophysiology and genotype-phenotype correlations[J].FRONTIERS OF HORMONE RESEARCH,2010.121-132.
-
5Villanueva C,de Roux N. FGFR1 mutations in Kallmann syndrome[J].FRONTIERS OF HORMONE RESEARCH,2010.51-61.
-
6Hardelin JP,Dodé C. The complex genetics of Kallmann syndrome:KAL1,FGFR1,FGF8,PROKR2,PROK2,et al[J].Sex Dev,2008,(4-5):181-193.
二级参考文献39
-
1Kallmann FJ,Schoenfeld WA,Barrera SE.The genetic aspects of primary eunuchoidism[J].Am J Ment Defic,1944,48:203 -236.
-
2de Morsier G,Gauthier G.Olfacto-genital dysplasia[J].Pathol Biol (Paris),1963,11:1267-1272.
-
3Naftolin F,Harris GW,Bobrow M.Effect of purified luteinizing hormone releasing factor on normal and hypogonadotrophic anosmic men[J].Nature,1971,232(5311):496-497.
-
4Hardelin JP,Dodé C.The complex genetics of Kallmann syndrome:KAL1,FGFR1,FGFg,PROKR2,PROK2,et al[J].Sex Dev,2008,2(4 -5):181-193.
-
5Cariboni A,Maggi R.Kallmann's syndrome,a neuronal migration defect[J].Cell Mol Life Sci,2006,63(21):2512 -2526.
-
6Kaminski BA,Palmert MR.Genetic control of pubertal timing[J].Curr Opin Pediatr,2008,20(4):458-464.
-
7Versiani BR,Trarbach E,Koenigkam-Santos M,et al.Clinical assessment and molecular analysis of GnRHR and KAL1 genes in males with idiopathic hypogonadotrophic hypogonadism[J].Clin Endocrinol(Oxf),2007,66(2):173-179.
-
8Koenigkam-Santos M,de Castro M,Versiani BR,et al.Kallmann syndrome and mirror movements:White matter quantitative evaluation with magnetic resonance imaging[J].J Neurol Sci,2010,292(1-2):40-44.
-
9Grumbach MM.A window of opportunity:the diagnosis of gonadotropin deficiency in the male infant[J].J Clin Endocrinol Metab,2005,90(5):3122 -3127.
-
10Dodé C,Hardelin JP.Kallmann syndrome[J].Eur J Hum Genet,2009,17(2):139-146.
共引文献3
-
1于洋,陈雷,洪楠.Kallmann综合征1例[J].实用放射学杂志,2013,29(10):1714-1715.
-
2谢先锋.Kallmann综合征3例临床报告曁文献复习[J].当代医学,2014,20(16):47-48. 被引量:1
-
3黄新梅,刘军,吴跃跃,盛励,徐炯,陈灶萍,丁和远,查兵兵.Kallmann综合征一例[J].临床内科杂志,2014,31(5):353-353. 被引量:1
同被引文献7
-
1范光明,沈金丹,文伟,李东方,焦俊,张巧.Kallmann综合征的影像学表现[J].山东医药,2009,49(7):77-79. 被引量:3
-
2安旭方,陈长勇,郭建琴,李世信.Kallmann综合征1例[J].河北医药,2009,31(13):1698-1699. 被引量:1
-
3郭凯敏,李付彪,刘凌云,仲秋,王洪亮.Kallmann综合征的诊断及治疗[J].山东医药,2009,49(42):56-57. 被引量:1
-
4朱小军,李彩萍,邱琳,刘敏.Kallmann综合征临床分析[J].内蒙古医学院学报,2010,32(1):43-45. 被引量:1
-
5沙艳伟,李朋,李铮.Kallmann综合征致病基因与诊疗研究进展[J].上海交通大学学报(医学版),2010,30(7):856-860. 被引量:4
-
6熊伟,蒋秋燕,欧波,龙从杰.戴克-大卫杜夫-梅森综合征CT、MRI诊断及鉴别诊断(附3例报告并文献复习)[J].实用放射学杂志,2011,27(1):21-25. 被引量:11
-
7薛鹏,尹所,郑红伟.Kallmann综合征一例报道并文献复习[J].影像诊断与介入放射学,2011,20(5):383-385. 被引量:1
-
1曾永光,冯建华.Kallmann综合征的诊断与治疗——附12例报告[J].中国医师进修杂志,2004,27(S1):54-55.
-
2李永海,邢俊平.Kallmann氏综合征:附7例报告[J].中华泌尿外科杂志,1990,11(1):47-49.
-
3王德明,徐亚茹,吴楠,郑丽芳.42例男性性腺发育不良的细胞遗传学与临床分析[J].中国优生与遗传杂志,2000,8(1):50-51. 被引量:14
-
4苏秀芬,张清泉.长春地区散发型戊型病毒性肝炎12例报告[J].白求恩医科大学学报,1995,21(2):180-181.
-
5伍思国,杨静.戊型病毒性肝炎86例临床分析[J].临床肝胆病杂志,2005,21(1):56-56. 被引量:2
-
6周凯,秦玉明,莫绪明.1290例散发型先天性心脏病患儿内皮型一氧化氮合酶基因G10T多态性[J].临床儿科杂志,2015,33(9):807-809.
-
7戊型肝炎[J].传染病网络动态,2006(8):101-101.
-
8盖鸿艳.对比散发型戊型肝炎与急性乙肝临床特点[J].科学中国人,2015(4Z).
-
9张雪瑞,裘娟,刘群,邵小光.大连地区62例闭经患者的细胞遗传学分析[J].临床医药文献电子杂志,2014,1(13):1487-1488.
-
10成威,李国华,孙卫平,廖利珍.Kallmann综合征合并顽固性高血压1例[J].现代医学,2014,42(8):944-945.